ClinVar Genomic variation as it relates to human health
NC_000006.11:g.(?_137143759)_(138202456_?)dup
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
IFNGR1 | - | - |
GRCh38 GRCh37 |
353 | 372 | |
IL20RA | - | - |
GRCh38 GRCh37 |
25 | 50 | |
IL22RA2 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
LINC02539 | - | - | - |
GRCh38 GRCh37 |
- | 17 |
OLIG3 | - | - |
GRCh38 GRCh37 |
18 | 35 | |
PEX7 | - | - |
GRCh38 GRCh37 |
659 | 682 | |
SLC35D3 | - | - |
GRCh38 GRCh37 |
20 | 40 | |
TNFAIP3 | - | - |
GRCh38 GRCh37 |
465 | 545 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 15, 2023 | RCV004578841.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024